FRMD7相关论文
Idiopathic congenital nystagmus(ICN)is a genetic heterogenous disorder that characterized by involuntary horizontal osci......
Congenital motor nystagmus (CMN) is a relatively common oculomotor disorder characterized by bilateral uncontrollable oc......
先天性特发性眼球震颤（CIN）是指出生后早期出现的、无明显诱因的双眼非自主性、有节律的往返运动。CIN发病率为0.015%～0.14%。CIN患者......
,Identification and functional characterization of a novel missense mutation in FRMD7 responsible fo
Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous eye movement disorder which seriously reduces child......
目的 验证我们所收集的家系在GPR143基因的已报道突变位点中是否有所相同.方法 对本家系中的15个个体进行GPR143两个基因的外显子......
先天性遗传性眼震是一类遗传异质性疾病,主要有常染色体显性遗传,常染色体隐性遗传和X连锁不完全显性遗传等三种遗传模式,但X连锁......
学位
婴儿眼球震颤综合征(Infantile Nystagmus Syndrome,INS)以前被称为先天性眼球震颤(Congenital Nystagmus,CN),是一种双眼共轭的不......
研究背景与目的：先天性特发性眼球震颤（Idiopathic congenital nystagmus, ICN）是一种出生后数月内发病、主要临床表现为非自主性节律......
